MCID: LCY001
MIFTS: 14

Lucey-Driscoll Syndrome malady

Genetic diseases, Rare diseases, Liver diseases categories

Summaries for Lucey-Driscoll Syndrome

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NIH Rare Diseases:41 Lucey-driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. it occurs when the body does not properly break down (metabolize) a certain form of bilirubin.  if untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death. treatment for lucey-driscoll syndrome includes phototherapy with blue light (to treat the high level of bilirubin in the blood) and an exchange transfusion is sometimes necessary. different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition. last updated: 11/15/2010

MalaCards based summary: Lucey-Driscoll Syndrome, also known as transient familial neonatal hyperbilirubinemia, is related to hyperbilirubinemia, familial transient neonatal and gilbert syndrome. An important gene associated with Lucey-Driscoll Syndrome is UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1). Affiliated tissues include eye, skin and liver.

Aliases & Classifications for Lucey-Driscoll Syndrome

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Sources:
41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Lucey-Driscoll Syndrome, Aliases & Descriptions:

Name: Lucey-Driscoll Syndrome 41 47 22 60
Transient Familial Neonatal Hyperbilirubinemia 41 20 47
 
Transient Familial Hyperbilirubinemia 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases
Orphanet: 47 
Rare hepatic diseases


External Ids:

Orphanet47 2312
ICD10 via Orphanet26 P59.8

Related Diseases for Lucey-Driscoll Syndrome

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Diseases related to Lucey-Driscoll Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperbilirubinemia, familial transient neonatal10.3
2gilbert syndrome10.3

Symptoms for Lucey-Driscoll Syndrome

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Drugs & Therapeutics for Lucey-Driscoll Syndrome

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Drug clinical trials:

Search ClinicalTrials for Lucey-Driscoll Syndrome

Search NIH Clinical Center for Lucey-Driscoll Syndrome

Genetic Tests for Lucey-Driscoll Syndrome

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Genetic tests related to Lucey-Driscoll Syndrome:

id Genetic test Affiliating Genes
1 Transient Familial Neonatal Hyperbilirubinemia20 UGT1A1
2 Lucey-Driscoll Syndrome22

Anatomical Context for Lucey-Driscoll Syndrome

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MalaCards organs/tissues related to Lucey-Driscoll Syndrome:

31
Eye, Skin, Liver

Animal Models for Lucey-Driscoll Syndrome or affiliated genes

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Publications for Lucey-Driscoll Syndrome

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Variations for Lucey-Driscoll Syndrome

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Clinvar genetic disease variations for Lucey-Driscoll Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1UGT1A1*28duplicationPathogenicrs34983651GRCh37Chr 2, 234668880: 234668893
2NM_000463.2(UGT1A1): c.211G> A (p.Gly71Arg)single nucleotide variantPathogenicrs4148323GRCh37Chr 2, 234669144: 234669144

Expression for genes affiliated with Lucey-Driscoll Syndrome

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Search GEO for disease gene expression data for Lucey-Driscoll Syndrome.

Pathways for genes affiliated with Lucey-Driscoll Syndrome

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Compounds for genes affiliated with Lucey-Driscoll Syndrome

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GO Terms for genes affiliated with Lucey-Driscoll Syndrome

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Products for genes affiliated with Lucey-Driscoll Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lucey-Driscoll Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet